Advances in laboratory medicine最新文献

{"title":"Corioamnionitis por Ureaplasma parvum: a propósito de un caso","authors":"A. Moreno-Flores, María Domínguez-Landesa, María Guadalupe Vázquez-López, Laura Sante-Fernández","doi":"10.1515/almed-2022-0103","DOIUrl":"https://doi.org/10.1515/almed-2022-0103","url":null,"abstract":"Resumen Objetivos Las especies de Ureaplasma son los microorganismos más frecuentemente relacionados con casos de parto prematuro espontáneo, rotura prematura de membranas o corioamnionitis. Caso clínico Gestante de 28 + 6 semanas, sin antecedentes personales de interés, que acude al hospital por contracciones. Ante la sospecha clínica de corioamnionitis ingresa para cesárea segmentaria transversa, transcurriendo sin nada reseñable y siendo dada de alta a los siete días del ingreso. El neonato permanece estable y sin datos clínicos de infección. No obstante, ante la sospecha clínica de corioamnionitis se pauta tratamiento empírico con ampicilina (2 g/6 h) y gentamicina (5 mg/kg/24 h) intravenosas y se toman muestras de exudados faríngeo/amigdalar, ótico y anal/rectal. A las 24 horas se detecta en todas las muestras Ureaplasma parvum, suspendiéndose el tratamiento empírico e iniciando azitromicina intravenosa (12 mg/24 h). También se detecta U. parvum en muestra de exudado endocervical y de placenta. Tras 52 días de ingreso el lactante es dado de alta. Conclusiones Aunque parece clara la relación entre la colonización por estos microorganismos y el desarrollo de enfermedad perinatal, el elevado porcentaje de colonización vaginal existente y el hecho de que la mayoría de embarazadas colonizadas den a luz a término, sin ningún tipo de complicación, hacen necesarios más estudios.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"9 1","pages":"130 - 132"},"PeriodicalIF":0.0,"publicationDate":"2023-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80837226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estudio bioquímico de neuroblastoma congénito","authors":"Cristina Montero Domínguez, Alicia Ortiz Temprado, Laura Martínez Figueras, Alba Guillamón Seoane, Miguel Fernández Ruano","doi":"10.1515/almed-2022-0049","DOIUrl":"https://doi.org/10.1515/almed-2022-0049","url":null,"abstract":"Resumen Objetivos La incidencia de neuroblastoma congénito se ha incrementado en los últimos años. El propósito de este artículo es presentar las características clínicas y bioquímicas de neuroblastomas congénitos diagnosticados en nuestro centro. Caso clínico Estudio de tres casos de neuroblastoma congénito diagnosticados en nuestro hospital. En dos casos el diagnóstico fue prenatal y en el otro fue detectado en el período neonatal inmediato. Los tres casos presentaron localización abdominal y valores de catecolaminas o sus metabolitos en orina de micción única elevados. Dos tumores se clasificaron como estadio M y uno como estadio L2. En ninguno de los pacientes estudiados se encontró amplificación del oncogén N-MYC ni presentaron características histopatológicas desfavorables. Se realizó exéresis del tumor en dos pacientes, y los tres recibieron quimioterapia. Conclusiones La medición de catecolaminas y sus metabolitos en orina es una parte fundamental del diagnóstico de neuroblastoma. En aquellos casos en los que no se puede recoger muestras de orina de 24 horas, se puede utilizar orina de micción única calculando el índice en función de la creatinina excretada.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"61 1","pages":"124 - 127"},"PeriodicalIF":0.0,"publicationDate":"2022-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80694429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estado actual y retos futuros de la medicina de laboratorio en España: un análisis de la Sociedad Española de Medicina de Laboratorio (SEQCML)","authors":"Imma Caballé, Antonio Buño, F. Bernabeu, Francesca Canalias, Antonio Moreno, M. Ibarz, J. Puzo, Concepción González, Álvaro González","doi":"10.1515/almed-2022-0108","DOIUrl":"https://doi.org/10.1515/almed-2022-0108","url":null,"abstract":"Resumen Objetivos La medicina de laboratorio es una disciplina clave que contribuye al diagnóstico, terapia y seguimiento adecuado de los pacientes. Actualmente se enfrenta a grandes retos debido a la innovación tecnológica y al aumento de la demanda. Desafortunadamente hay una información limitada para comprender la situación actual en España. Este estudio pretende mostrar la situación de los laboratorios clínicos y de los profesionales de la medicina laboratorio. Métodos Desde la Sociedad Española de Medicina de Laboratorio se envió una encuesta a los 250 centros más representativos (mayor volumen y con programas formativos), de los cuales 174 (69,6%) respondieron con datos referidos a 2019. Resultados Los laboratorios se clasificaron en función del número de determinaciones. El 37% se consideraron pequeños (<1 millón de determinaciones al año), el 40% medianos (entre 1 y 5 millones de determinaciones al año) y el 23% grandes (>5 millones de determinaciones al año). El nivel de especialización de los facultativos y la eficiencia fueron mayores en los laboratorios grandes. La mayoría de las peticiones (87%) y determinaciones (93%) se concentraron en Bioquímica y Hematología. En relación con los facultativos, el 63% disponían de contrato fijo y el 23% superaban los 60 años. Conclusiones La medicina de laboratorio en España es una disciplina consolidada y en crecimiento, capaz de aportar valor al diagnóstico, pronóstico y seguimiento de enfermedades y sus tratamientos. El conocimiento del estado actual nos permitirá abordar retos tales como la necesidad de formación de profesionales, la innovación tecnológica, la aplicación del Big data, la optimización de los sistemas de gestión de calidad y la seguridad del paciente.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"50 1","pages":"81 - 91"},"PeriodicalIF":0.0,"publicationDate":"2022-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82162865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of the COVID-19 pandemic on the activity of clinical laboratories in Spain, evolution in the 2019-2021 period.","authors":"Ana Belén Lasierra Monclús,&nbsp;Álvaro González,&nbsp;Francisco A Bernabéu Andreu,&nbsp;Imma Caballé Martín,&nbsp;Antonio Buño Soto,&nbsp;Mercè Ibarz,&nbsp;Concepción González Rodríguez,&nbsp;José Puzo Foncillas","doi":"10.1515/almed-2022-0107","DOIUrl":"https://doi.org/10.1515/almed-2022-0107","url":null,"abstract":"<p><strong>Objectives: </strong>To assess the impact of the COVID-19 pandemic on the activity of clinical laboratories in Spain.</p><p><strong>Methods: </strong>A descriptive, observational, retrospective, multicenter study.</p><p><strong>Results: </strong>Between March and December 2020, there was a statistically significant decrease in the number of test requests (-17.7%, p=<0.001) and total tests performed (-18.3%, p<0.001) with respect to the same period in 2019. A decrease was observed in the number of requests from primary care (-37.4%) (p<0.001) and in the number of foecal occult blood (-45.8%); qualitative urine (-30.1%); PSA (-28.5%); TSH (-27.8%); total cholesterol (-27.2%) and HbA_1c (-24.7%) tests performed, p<0.001. A significant increase was found in the number of requests from ICUs (76.6%, p<0.001) and number of IL-6 (+22,350.9), D-dimer (+617.2%), troponin (+46.8%) and arterial blood gas (+3.9%) tests carried out, p<0.001. During the first months of 2021, there were significant changes in the number of requests for qualitative urine (-8.7%, p<0.001), PSA (-6.3%, p=0.009), IL-6 (+66,269.2, p<0.001), D-dimer (+603.6%, p<0.001), troponin (+28.7%, p<0.001), arterial blood gas (+26,2%, p=0.014) and ferritin (+16.0%, p=0.002) tests performed.</p><p><strong>Conclusions: </strong>There were changes in the origin and number of test requested to clinical laboratories in Spain. The number of requests for the evaluation and monitoring of COVID-19 patients increased, whereas requests for the control of non-COVID patients and for population screening decreased. Long-term analysis reveals that the volume of tests performed for the control of chronic diseases returned to normal over time, whereas the increase observed in the volume of tests performed for the management of COVID-19 patients is maintained.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"3 4","pages":"361-382"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9718296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Análisis del perfil hematológico de los pacientes con la enfermedad por coronavirus 2019 (COVID-19)","authors":"Felisia Setio, Darwati Muhadi, Asvin Nurulita, Mansyur Arif, Irawaty Djaharuddin, Arifin Seweng","doi":"10.1515/almed-2022-0102","DOIUrl":"https://doi.org/10.1515/almed-2022-0102","url":null,"abstract":"Resumen Objetivos Se han propuesto varios parámetros hematológicos como marcadores de gravedad de la COVID-19. Aún no se han realizado estudios en Makassar (Indonesia), para evaluar potenciales diferencias en el perfil hematológico de los pacientes según la gravedad de la enfermedad y las comorbilidades que presentan. Así mismo, tampoco se ha estudiado la correlación entre perfil hematológico y umbral de número de ciclos (Ct). El objetivo de este estudio es investigar posibles diferencias en el perfil hematológico de los pacientes con COVID-19 según la gravedad de la enfermedad y sus comorbilidades, así como determinar la posible correlación entre el perfil hematológico y el Ct en estos pacientes. Métodos Se realizó un estudio retrospectivo transversal de pacientes con COVID-19 hospitalizados en el hospital del Dr. Wahidin Sudirohusodo en Makassar entre junio y agosto de 2020. Los datos sobre el perfil hematológico, niveles de Ct, comorbilidades y gravedad de la COVID-19 se extrajeron de la base de datos del hospital. Resultados De los 217 pacientes, 102 (47%) eran hombres, frente a 115 (53%) mujeres. El número de pacientes con enfermedad leve o moderada fue de 127 (58.5%) mientras que 90 pacientes presentaban enfermedad grave (41.5%). En total, 143 pacientes (65%) no tenían comorbilidades, mientras que 74 pacientes (35%) sí las tenían. La amplitud de la distribución eritrocitaria, el recuento leucocitario, neutrófilos y monocitos, y la relación neutrófilos-linfocitos fueron significativamente superiores en los pacientes con enfermedad grave que en los que presentaban enfermedad leve o moderada (p<0,05). Así mismo, los pacientes graves presentaron un recuento de glóbulos rojos, hemoglobina, hematocrito, linfocitos y trombocitos significativamente inferior al de los pacientes con enfermedad leve o moderada. No se observaron diferencias significativas en el perfil hematológico según las comorbilidades, ni correlación alguna entre este y los niveles de Ct, excepto para el recuento de eosinófilos (r=0,161; p=0,018). Conclusiones Nuestra hipótesis era que el perfil hematológico podría predecir la gravedad de la enfermedad en pacientes con COVID-19. Además, el recuento de eosinófilos debería tenerse en cuenta a la hora de predecir la infectividad de un paciente con COVID-19.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"29 1","pages":"390 - 396"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85542529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implicación del estrés oxidativo en las enfermedades neurodegenerativas y posibles terapias antioxidantes","authors":"P. Sienes Bailo, Elena Llorente Martín, P. Calmarza, Silvia Montolio Breva, Adrián Bravo Gómez, Adela Pozo Giráldez, Joan José Sánchez-Pascuala Callau, Juana Maria Vaquer Santamaría, Anita Dayaldasani Khialani, Concepción Cerdá Micó, Jordi Camps Andreu, Guillermo Sáez Tormo, Isabel Fort Gallifa","doi":"10.1515/almed-2022-0022","DOIUrl":"https://doi.org/10.1515/almed-2022-0022","url":null,"abstract":"Resumen Objetivos El sistema nervioso central es fundamental en el control de la homeostasis y mantenimiento de las funciones fisiológicas del organismo. Sin embargo, sus características bioquímicas hacen que sea especialmente vulnerable al daño oxidativo, lo que compromete su correcto funcionamiento, desencadenando neurodegeneración y muerte neuronal. Contenido El estrés oxidativo desempeña un papel importante en la fisiopatología de las enfermedades neurodegenerativas dado que participa en multitud de mecanismos que inducen oxidación de ácidos nucleicos, proteínas y lípidos, contribuyendo con ello, al daño cerebral progresivo. Entre estos mecanismos se encuentran la disfunción mitocondrial, generación excesiva de especies reactivas de oxígeno y nitrógeno, déficit de defensas antioxidantes, oligomerización de proteínas, producción de citoquinas y respuesta inflamatoria, alteración de la barrera hematoencefálica o disfunción del proteasoma. Todas estas disfunciones se han visto implicadas en la patogénesis de diversas enfermedades neurodegenerativas, como la enfermedad de Parkinson, Alzheimer, Huntington o esclerosis lateral amiotrófica. Resumen y perspectivas Aunque actualmente no existen tratamientos curativos, las investigaciones se han dirigido a la búsqueda de terapias que permitan reducir el daño secundario al estrés oxidativo y ralentizar la evolución de la enfermedad. Es aquí donde las investigaciones sobre el efecto de las terapias antioxidantes muestran un papel activo.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"83 1","pages":"351 - 360"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79343056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Capillary blood, overcoming dinosaur and unicorn stories.","authors":"Álvaro González,&nbsp;Julia Maroto-García,&nbsp;Nerea Varo","doi":"10.1515/almed-2022-0115","DOIUrl":"https://doi.org/10.1515/almed-2022-0115","url":null,"abstract":"Senior specialists will remember the IVY method, or bleeding time test, a method used in the early 20th century to evaluate primary hemostasis. At present, this method sleeps in old books, as ancient and antique as dinosaurs. Nowadays, dried blood spot (DBS) analysis is a widely known method used in clinical laboratories worldwide, mainly in neonatal screening and in pharmacokynetic, toxicological and infectious disease studies. By this method, some drops of blood (some microliters) are drawn from the heel or finger via a relatively painless puncture and placed onto a designated filter paper. With this simple method, the blood sample is easily shipped to the laboratory, which makes this technique very adequate for neonatal screening. The World Health Organization recommends the use of DBS for screening for infectious diseases such as hepatitis B, C, and human immunodeficiency virus (HIV) in countries with deficient healthcare services [1]. However, although the majority of blood samples – virtually all liquid – are analyzed in the central laboratory, the use of DBS is anecdotal. The chief executive officer (CEO) of Theranos, a promising blood testing start-up, was recently convicted of fraud for duping investors about the effectiveness of a technology her company had supposedly developed, which could detect multiple diseases from a few drops of capillary blood [2]. The history of this company, which was initially considered a unicorn in Silicon Valley, and her protagonist, an entepreneur that used to be compared with Steve Jobs, had all the ingredients of a thriller. This history teaches investors and laboratories that promises not based on scientific evidence should be approached with caution. However, Theranos technology pointed to one of the most compelling needs in healthcare: developing a blood sampling method that requires a minimal volume of blood and can be used out of the hospital. Capillary blood sampling is a relatively painless procedure whereby a small volume of blood can be drawn by the patient. Various companies from different countries, including Spain, offer home-collect biochemistry kits for the analysis of capillary blood that include blood collection and shipping material. At-home blood collection would be extremely useful for patients living in remote areas far from blood collection centers, and could also complement the work of clinicians through the use of telemedicine. As a result of the pandemic, an increasing number of patients are reluctant to visit hospitals. These centers are frequently saturated, and remote blood sampling would alleviate the workload of laboratory collection centers. The use of small amounts of blood would clearly benefit some groups of patients, including pediatric, elderly, and chronic and cancer patients, who need frequent blood tests. Some patients are afraid of blood draws, and would show better tolerance to a less aggressive technique. However, this technique may not be recommended for some typ","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"3 4","pages":"317-320"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9718297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Control of occult hepatitis B virus infection.","authors":"Marta Lalana Garcés,&nbsp;Oihana Ortiz Pastor,&nbsp;Gemma Solé Enrech,&nbsp;Armando R Guerra-Ruiz,&nbsp;Gregori Casals Mercadal,&nbsp;Alejandro Almería Lafuente,&nbsp;María Antonieta Ballesteros Vizoso,&nbsp;Pablo Gabriel Medina,&nbsp;Sergio Salgüero Fernández,&nbsp;Angielys Zamora Trillo,&nbsp;Isabel Aured de la Serna,&nbsp;Juan Carlos Hurtado,&nbsp;Sofía Pérez-Del-Pulgar,&nbsp;Xavier Forns,&nbsp;Manuel Morales Ruiz","doi":"10.1515/almed-2022-0065","DOIUrl":"https://doi.org/10.1515/almed-2022-0065","url":null,"abstract":"<p><strong>Background: </strong>The diagnosis of hepatitis B virus (HBV) infection requires HBV DNA testing and serologic testing for detection of the surface antigen (HBsAg) and the hepatitis B core antibody (anti-HBc). There is a population of patients with occult HBV infection (OBI), which is not detected by HBsAg or HBV DNA quantification in blood, despite the presence of active replication in the liver.</p><p><strong>Scope: </strong>This document provides a definition of OBI and describes the diagnostic techniques currently used. It also addresses the detection of patients with risk factors and the need for screening for OBI in these patients.</p><p><strong>Summary: </strong>Correct diagnosis of OBI prevents HBV reactivation and transmission. Diagnosis of OBI is based on the detection of HBV DNA in patients with undetectable HBsAg in blood.</p><p><strong>Perspectives: </strong>A high number of patients with OBI may remain undiagnosed; therefore, screening for OBI in patients with factor risks is essential. For a correct diagnosis of OBI, it is necessary that new markers such as ultrasensitive HBsAg are incorporated, and a more comprehensive marker study is performed by including markers such as cccDNA.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"3 4","pages":"321-341"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9718294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Klinefelter syndrome with long-arm X-chromosome deletion.","authors":"Vanesa Escribano Hernández,&nbsp;Maria Ángeles Sanz de Benito,&nbsp;Raffaelle Carraro Casieri","doi":"10.1515/almed-2022-0106","DOIUrl":"https://doi.org/10.1515/almed-2022-0106","url":null,"abstract":"Klinefelter syndrome (KS)was first described in 1942 byHarry F. Klinefelter in nine men with testicular abnormalities, failure to produce spermatozoa and gynaecomastia [1], being the first sexual chromosome abnormality to be described. In 1959, Jacobs and Strong found that this phenotypewas due to the presence of an extra X chromosome [2]. Klinefelter syndrome (KS) is an ananeuploidy that affects sexual chromosomes characterized by the presence of two X chromosomes and a Y chromosome in subjects with a male phenotype. It is themost common sexual chromosome abnormality,with an incidenceof 1 in 600malebirths, being themost frequent cause of genetic infertility inmales,with a frequency of 4% [3]. Clinically, patients are tall, with narrow shoulders,wide hips,weakmuscles, scarce bodyhair, small testes, gynaecomastia and infertility. Complementary tests revealed aspermatogenesis, reduced levels of serum testosterone, elevated levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) and androgen deficiency (hypergonadotropic hypogonadism). It is associated with other comorbidities, including osteoporosis, varicose veins, thromboembolic disease, diabetes, chronic bronchitis, bronchiectasis, emphysema and neoplastic diseases. Phenotypic traits are subtle and generally remain unnoticed during childhood and adolescence. Diagnosis is usually established during puberty due to poor development of secondary sexual characters, or even in adulthood, upon investigation of infertility. We report the case of a 26-year-old man referred to the Unit of Urology due to the presence of phimosis. Reported pubarche occurred at 12 years, with deepening of voice and growth of facial hair at 18, although it is sparse and needs shaving only once weekly. He experiences erections and sexual desire, and does not show other symptoms. On physical examination, the patient has a height of 177 cm, a weight of 76.6 kg and an arm span of 180 cm, with mild phimosis, hypotrophic testes and mild gynaecomastia. Seminogram reveals a volume of sperm of 3.2 mL, translucent, with total liquefaction at 1 h and normal viscosity, with a pH of 8.5 azoospermia. Scrotal ultrasound demonstrates a reduction of the size of the testes, diffuse hypogenicity and a hyperechogenic point related to microcalcifications, without intraparenchymal lesions. Epididymes with preserved morphology, with an 8-mm cyst in the head of the left epididymis. Hydrocele or varicocele not noted. Findings related to the hormonal profile of the patient are shown in Table 1.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"3 4","pages":"415-419"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9718299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relevance of inferior petrosal sinus sampling in the diagnosis of Cushing's syndrome: a case report.","authors":"Clara Jiménez García,&nbsp;Paula Sirera Sirera,&nbsp;María Eugenia Torregrosa Quesada,&nbsp;Victoria González Bueno,&nbsp;Rocío Alfayate Guerra","doi":"10.1515/almed-2022-0104","DOIUrl":"https://doi.org/10.1515/almed-2022-0104","url":null,"abstract":"<p><strong>Objectives: </strong>Non-specific signs and symptoms of Cushing's syndrome (CS) can pose a diagnostic challenge.</p><p><strong>Case presentation: </strong>We report the case of a man referred to the service of endocrinology for suspected CS. Hypercortisolism was confirmed on CS screening tests, whereas diagnostic tests confirmed the presence of adrenocorticotropin (ACTH) -dependent CS. The corticotropin-releasing hormone stimulation (CRH) test was performed to determine whether CS had an endogenous or ectopic origin. Since the CRH and the magnetic resonance imaging (MRI) test were negative, IPSS was performed and suggested that CS was originated in the pituitary glands. Transsphenoidal pituitary resection was carried out. Histopathological analysis confirmed the cortitotrope origin of the tumor.</p><p><strong>Conclusions: </strong>The etiological study and differential diagnosis of CS are complex processes that involve a variety of biochemical and imaging tests. It is important that a sequence of biochemical screening and diagnostic tests is performed, along with studies for establishing the location of the lesion, to determine whether CS has an adrenal, pituitary or ectopic origin. Despite its good diagnostic performance, the results of biochemical tests may not be conclusive, especially in ACTH-dependent CS. In the case reported, the inconclusive results obtained in the CRH test rendered an invasive procedure (IPSS) necessary, which ultimately confirmed diagnosis.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"3 4","pages":"407-414"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9718292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}